Associated Papers
Common origin and somatic mutation patterns of composite lymphomas and leukemias.
Berg V et al.
Leukemia, 2025
Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.
Jin E et al.
Ophthalmic Genetics, 2024
Establishment and Thorough Characterization of Xenograft (PDX) Models Derived from Patients with Pancreatic Cancer for Molecular Analyses and Chemosensitivity Testing.
Behrens D et al.
Cancers, 2023
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein-Taybi syndrome.
Nagai Y et al.
Pcn Reports : Psychiatry and Clinical Neurosciences, 2022
Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.
Sohn SH et al.
Cancers, 2022
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
Molecular profiling of male breast cancer by multigene panel testing: Implications for precision oncology.
Valentini V et al.
Frontiers in Oncology, 2022
Oncomine™ Comprehensive Assay v3 vs. Oncomine™ Comprehensive Assay Plus.
Vestergaard LK et al.
Cancers, 2021
Next-generation genome sequencing of a matched normal-tumor pair from a patient with intractable gestational choriocarcinoma: A case report.
Niimi K et al.
Molecular and Clinical Oncology, 2021
The occurrence and treatment of hemophagocytic lymphohistiocytosis caused by multiple factors: a case report and literature review.
Zhuo W et al.
Annals of Palliative Medicine, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Van Marcke C et al.
Breast Cancer Research : Bcr, 2020
Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.
Jiang L et al.
American Journal of Cancer Research, 2020
Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.
Carbonell D et al.
Cancers, 2019
[Spectrum of somatic mutations and their prognostic significance in adult patients with B cell acute lymphoblastic leukemia].
Feng J et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2018
A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.
Bardakjian T et al.
American Journal of Ophthalmology Case Reports, 2017
Mutational analysis of multiple lung cancers: Discrimination between primary and metastatic lung cancers by genomic profile.
Goto T et al.
Oncotarget, 2017
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Menke LA et al.
American Journal of Medical Genetics. Part A, 2016
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
Schorry EK et al.
American Journal of Medical Genetics. Part A, 2008
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.
Bartsch O et al.
Human Genetics, 2005
Mutations and deletions of the CBP gene in human lung cancer.
Kishimoto M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2005